IQSEC2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384399	NM_001111125.3(IQSEC2):c.*13G>C	IQSEC2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1310781	NM_001111125.3(IQSEC2):c.4465T>A (p.Ter1489Arg)	IQSEC2	Single nucleotide variant (stop lost +1 more)	not provided	GLikely pathogenic
Select item 449855	NM_001111125.3(IQSEC2):c.4463T>C (p.Val1488Ala)	IQSEC2 (V1488A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 423803	NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met)	IQSEC2 (V1487M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 681628	NM_001111125.3(IQSEC2):c.4458C>T (p.Thr1486=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1520662	NM_001111125.3(IQSEC2):c.4457C>T (p.Thr1486Ile)	IQSEC2 (T1486I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2036901	NM_001111125.3(IQSEC2):c.4455C>T (p.Ser1485=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1718724	NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)	IQSEC2 (R1483Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 1973147	NM_001111125.3(IQSEC2):c.4446C>T (p.Ser1482=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 471275	NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs)	IQSEC2 (K1480fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 2663104	NM_001111125.3(IQSEC2):c.4433del (p.Lys1478fs)	IQSEC2 (K1478fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1206978	NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu)	IQSEC2 (P1477L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3349648	NM_001111125.3(IQSEC2):c.4423G>A (p.Ala1475Thr)	IQSEC2 (A1475T)	Single nucleotide variant (missense variant +1 more)	IQSEC2-related disorder	GUncertain significance
Select item 975247	NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)	IQSEC2 (S1474fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 1 +1 more	GPathogenic
Select item 1076522	NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs)	IQSEC2 (S1474fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 770080	NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 599453	NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs)	IQSEC2 (S1474fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 1218277	NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu)	IQSEC2 (P1473L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211208	NM_001111125.3(IQSEC2):c.4416C>T (p.Pro1472=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1454379	NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs)	IQSEC2 (N1471fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 129284	NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)	IQSEC2 (A1470T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1584610	NM_001111125.3(IQSEC2):c.4407A>G (p.Thr1469=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 538602	NM_001111125.3(IQSEC2):c.4391C>G (p.Ser1464Cys)	IQSEC2 (S1464C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 1403436	NM_001111125.3(IQSEC2):c.4390T>C (p.Ser1464Pro)	IQSEC2 (S1464P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3064512	NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)	IQSEC2 (A1463T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 2128239	NM_001111125.3(IQSEC2):c.4384C>T (p.His1462Tyr)	IQSEC2 (H1462Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 1082862	NM_001111125.3(IQSEC2):c.4380G>A (p.Pro1460=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 3348270	NM_001111125.3(IQSEC2):c.4379C>T (p.Pro1460Leu)	IQSEC2 (P1460L)	Single nucleotide variant (missense variant +1 more)	IQSEC2-related disorder	GUncertain significance
Select item 1334478	NM_001111125.3(IQSEC2):c.4372C>A (p.His1458Asn)	IQSEC2 (H1458N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1740057	NM_001111125.3(IQSEC2):c.4368C>T (p.Ser1456=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1633041	NM_001111125.3(IQSEC2):c.4362C>T (p.Pro1454=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2198803	NM_001111125.3(IQSEC2):c.4356T>G (p.Leu1452=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 471273	NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2047913	NM_001111125.3(IQSEC2):c.4350A>G (p.Ser1450=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1800754	NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)	IQSEC2 (S1450P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2020882	NM_001111125.3(IQSEC2):c.4344G>T (p.Pro1448=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1097321	NM_001111125.3(IQSEC2):c.4344G>A (p.Pro1448=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1739871	NM_001111125.3(IQSEC2):c.4343C>T (p.Pro1448Leu)	IQSEC2 (P1448L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 712267	NM_001111125.3(IQSEC2):c.4335T>C (p.Pro1445=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1408417	NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs)	IQSEC2 (P1445fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 859387	NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs)	IQSEC2 (P1442fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 2693572	NM_001111125.3(IQSEC2):c.4332C>T (p.Ser1444=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 712268	NM_001111125.3(IQSEC2):c.4332C>A (p.Ser1444=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 194481	NM_001111125.3(IQSEC2):c.4326A>C (p.Pro1442=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 759728	NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 129283	NM_001111125.3(IQSEC2):c.4314A>C (p.Pro1438=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1147878	NM_001111125.3(IQSEC2):c.4311T>C (p.Tyr1437=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1739633	NM_001111125.3(IQSEC2):c.4310A>G (p.Tyr1437Cys)	IQSEC2 (Y1437C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 421727	NM_001111125.3(IQSEC2):c.4300del (p.His1434fs)	IQSEC2 (H1434fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1650888	NM_001111125.3(IQSEC2):c.4296A>C (p.Pro1432=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 194482	NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1 +2 more	GConflicting classifications of pathogenicity
Select item 1336653	NM_001111125.3(IQSEC2):c.4288C>A (p.Pro1430Thr)	IQSEC2 (P1430T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1324587	NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs)	IQSEC2 (S1429fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 1559071	NM_001111125.3(IQSEC2):c.4284C>T (p.His1428=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2849006	NM_001111125.3(IQSEC2):c.4281A>G (p.Pro1427=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1285235	NM_001111125.3(IQSEC2):c.4264_4265del (p.Gln1422fs)	IQSEC2 (Q1422fs)	Deletion (frameshift variant +1 more)	Undetermined early-onset epileptic encephalopathy	GPathogenic
Select item 2696019	NM_001111125.3(IQSEC2):c.4264C>A (p.Gln1422Lys)	IQSEC2 (Q1422K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3000525	NM_001111125.3(IQSEC2):c.4256A>C (p.His1419Pro)	IQSEC2 (H1419P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 817176	NM_001111125.3(IQSEC2):c.4255dup (p.His1419fs)	IQSEC2 (H1419fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 941034	NM_001111125.3(IQSEC2):c.4252C>T (p.Pro1418Ser)	IQSEC2 (P1418S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 813544	NM_001111125.3(IQSEC2):c.4250A>C (p.His1417Pro)	IQSEC2 (H1417P)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 508555	NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 799226	NM_001111125.3(IQSEC2):c.4233A>G (p.Pro1411=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1059397	NM_001111125.3(IQSEC2):c.4228C>A (p.Pro1410Thr)	IQSEC2 (P1410T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3008380	NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)	IQSEC2 (R1409Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GBenign
Select item 778780	NM_001111125.3(IQSEC2):c.4224C>T (p.Ser1408=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1439407	NM_001111125.3(IQSEC2):c.4220G>C (p.Gly1407Ala)	IQSEC2 (G1407A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 575634	NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His)	IQSEC2 (P1406H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 1457021	NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs)	IQSEC2 (G1407fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 1	GPathogenic
Select item 778781	NM_001111125.3(IQSEC2):c.4206G>C (p.Ala1402=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 383928	NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2108825	NM_001111125.3(IQSEC2):c.4205C>T (p.Ala1402Val)	IQSEC2 (A1402V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 426456	NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr)	IQSEC2 (A1402T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 1988677	NM_001111125.3(IQSEC2):c.4203C>T (p.Gly1401=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 778782	NM_001111125.3(IQSEC2):c.4203C>G (p.Gly1401=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 712269	NM_001111125.3(IQSEC2):c.4200A>G (p.Ala1400=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1139062	NM_001111125.3(IQSEC2):c.4197A>G (p.Ala1399=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2060100	NM_001111125.3(IQSEC2):c.4185G>A (p.Gln1395=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2504569	NM_001111125.3(IQSEC2):c.4174C>T (p.His1392Tyr)	IQSEC2 (H1392Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2797901	NM_001111125.3(IQSEC2):c.4165A>G (p.Ile1389Val)	IQSEC2 (I1389V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 712270	NM_001111125.3(IQSEC2):c.4155T>C (p.Pro1385=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 471272	NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser)	IQSEC2 (P1385S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1721571	NM_001111125.3(IQSEC2):c.4151G>T (p.Gly1384Val)	IQSEC2 (G1384V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 1518618	NM_001111125.3(IQSEC2):c.4145A>T (p.Lys1382Ile)	IQSEC2 (K1382I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2795465	NM_001111125.3(IQSEC2):c.4138G>A (p.Ala1380Thr)	IQSEC2 (A1380T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2825038	NM_001111125.3(IQSEC2):c.4136C>T (p.Pro1379Leu)	IQSEC2 (P1379L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 1016138	NM_001111125.3(IQSEC2):c.4129C>T (p.His1377Tyr)	IQSEC2 (H1377Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2576752	NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)	IQSEC2 (Q1376P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 1143778	NM_001111125.3(IQSEC2):c.4122C>A (p.Ala1374=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1007288	NM_001111125.3(IQSEC2):c.4120G>A (p.Ala1374Thr)	IQSEC2 (A1374T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 759445	NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2013079	NM_001111125.3(IQSEC2):c.4115G>A (p.Ser1372Asn)	IQSEC2 (S1372N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 620442	NM_001111125.3(IQSEC2):c.4113C>G (p.Tyr1371Ter)	IQSEC2 (Y1371*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 511258	NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1719831	NM_001111125.3(IQSEC2):c.4106C>T (p.Pro1369Leu)	IQSEC2 (P1369L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 93557	NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1 +3 more	GBenign/Likely benign
Select item 1123019	NM_001111125.3(IQSEC2):c.4098C>G (p.Ser1366=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 1700807	NM_001111125.3(IQSEC2):c.4093A>C (p.Thr1365Pro)	IQSEC2 (T1365P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 984627	NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs)	IQSEC2 (T1365fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 1962804	NM_001111125.3(IQSEC2):c.4081C>T (p.Leu1361=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GBenign

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